Variant report

Variant	rs34355
Chromosome Location	chr5:74959970-74959971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74959210..74961845-chr5:74965195..74967227,2	K562	blood:
2	chr5:74959970..74961673-chr5:74963157..74964976,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10515213	0.94[GIH][hapmap];0.85[MEX][hapmap];0.81[EUR][1000 genomes]
rs168807	0.81[EUR][1000 genomes]
rs17563589	0.81[EUR][1000 genomes]
rs17563877	0.94[GIH][hapmap];0.85[MEX][hapmap]
rs17563995	0.81[EUR][1000 genomes]
rs17649248	0.94[GIH][hapmap];0.85[MEX][hapmap]
rs17649266	0.94[GIH][hapmap];0.85[MEX][hapmap]
rs17649332	0.91[GIH][hapmap];0.85[MEX][hapmap]
rs17649350	0.94[GIH][hapmap];0.85[MEX][hapmap]
rs17649362	0.81[EUR][1000 genomes]
rs2291630	0.94[GIH][hapmap];0.85[MEX][hapmap]
rs2307112	0.81[CEU][hapmap]
rs253387	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253388	0.91[CHD][hapmap];0.84[ASN][1000 genomes]
rs253410	0.87[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs253415	0.83[EUR][1000 genomes]
rs34339	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34342	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34343	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34349	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34356	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34357	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap]
rs4703676	0.81[EUR][1000 genomes]
rs4704229	0.81[CHD][hapmap]
rs5744544	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs5744545	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs5744712	0.84[CHD][hapmap];0.82[MEX][hapmap]
rs6891560	0.81[CHD][hapmap]
rs72633977	0.80[ASN][1000 genomes]
rs72633987	0.81[EUR][1000 genomes]
rs72633988	0.81[EUR][1000 genomes]
rs9293655	0.81[CHD][hapmap]
rs979182	0.93[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv522003	chr5:74947435-74988369	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs34355	POC5	cis	Thyroid	GTEx
rs34355	TNPO1	cis	cerebellum	SCAN
rs34355	AGGF1	cis	cerebellum	SCAN
rs34355	GCNT4	cis	cerebellum	SCAN
rs34355	POC5	cis	cerebellum	SCAN
rs34355	HMGCR	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74921800-74964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:74945000-74962800	Weak transcription	Fetal Intestine Large	intestine
3	chr5:74952600-74964200	Weak transcription	Stomach Mucosa	stomach
4	chr5:74952800-74964000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:74952800-74964200	Weak transcription	Right Ventricle	heart
6	chr5:74952800-74964400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:74952800-74981400	Weak transcription	Psoas Muscle	Psoas
8	chr5:74953000-74961000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:74953000-74964200	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:74953000-74964400	Weak transcription	Adipose Nuclei	Adipose
11	chr5:74953000-74964400	Weak transcription	Fetal Kidney	kidney
12	chr5:74953000-74964400	Weak transcription	Fetal Stomach	stomach
13	chr5:74953000-74964600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:74956000-74965000	Weak transcription	NHEK	skin
15	chr5:74956600-74964400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:74956800-74962800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:74956800-74964600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:74957400-74960800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:74957400-74966000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:74957400-74966000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:74958000-74964600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:74958400-74964400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:74958600-74960400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:74959000-74961000	Enhancers	Brain Cingulate Gyrus	brain
25	chr5:74959200-74960000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:74959200-74960000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:74959200-74960000	Bivalent Enhancer	Brain Germinal Matrix	brain
28	chr5:74959200-74960200	Strong transcription	Fetal Intestine Small	intestine
29	chr5:74959200-74965200	Enhancers	Brain Substantia Nigra	brain
30	chr5:74959400-74960000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:74959400-74960000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:74959400-74960000	Enhancers	Brain Angular Gyrus	brain
33	chr5:74959400-74960200	Enhancers	Brain Anterior Caudate	brain
34	chr5:74959400-74960200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:74959400-74960600	Enhancers	Fetal Brain Male	brain
36	chr5:74959400-74963000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:74959600-74960000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr5:74959600-74960200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:74959800-74960200	Enhancers	Brain Hippocampus Middle	brain
40	chr5:74959800-74960400	Enhancers	Colon Smooth Muscle	Colon

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